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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11206

FusionGeneSummary for EIF2AK4_AVEN

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2AK4_AVEN
Fusion gene ID: 11206
HgeneTgene
Gene symbol

EIF2AK4

AVEN

Gene ID

440275

57099

Gene nameeukaryotic translation initiation factor 2 alpha kinase 4apoptosis and caspase activation inhibitor
SynonymsGCN2|PVOD2PDCD12
Cytomap

15q15.1

15q14

Type of geneprotein-codingprotein-coding
DescriptioneIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2cell death regulator Avenapoptosis, caspase activation inhibitorprogrammed cell death 12
Modification date2018052320180519
UniProtAcc

Q9P2K8

Q9NQS1

Ensembl transtripts involved in fusion geneENST00000559624, ENST00000382727, 
ENST00000263791, ENST00000560648, 
ENST00000559311, 
ENST00000306730, 
ENST00000558136, 
Fusion gene scores* DoF score10 X 10 X 9=9004 X 2 X 4=32
# samples 114
** MAII scorelog2(11/900*10)=-3.03242147769238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EIF2AK4 [Title/Abstract] AND AVEN [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneAVEN

GO:0043066

negative regulation of apoptotic process

10949025


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-93-A4JQ-01AEIF2AK4chr15

40294989

+AVENchr15

34160056

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000559624ENST00000306730EIF2AK4chr15

40294989

+AVENchr15

34160056

-
intron-5UTRENST00000559624ENST00000558136EIF2AK4chr15

40294989

+AVENchr15

34160056

-
Frame-shitENST00000382727ENST00000306730EIF2AK4chr15

40294989

+AVENchr15

34160056

-
5CDS-5UTRENST00000382727ENST00000558136EIF2AK4chr15

40294989

+AVENchr15

34160056

-
Frame-shitENST00000263791ENST00000306730EIF2AK4chr15

40294989

+AVENchr15

34160056

-
5CDS-5UTRENST00000263791ENST00000558136EIF2AK4chr15

40294989

+AVENchr15

34160056

-
intron-3CDSENST00000560648ENST00000306730EIF2AK4chr15

40294989

+AVENchr15

34160056

-
intron-5UTRENST00000560648ENST00000558136EIF2AK4chr15

40294989

+AVENchr15

34160056

-
3UTR-3CDSENST00000559311ENST00000306730EIF2AK4chr15

40294989

+AVENchr15

34160056

-
3UTR-5UTRENST00000559311ENST00000558136EIF2AK4chr15

40294989

+AVENchr15

34160056

-

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FusionProtFeatures for EIF2AK4_AVEN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EIF2AK4

Q9P2K8

AVEN

Q9NQS1

Protects against apoptosis mediated by Apaf-1.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for EIF2AK4_AVEN


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for EIF2AK4_AVEN


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
EIF2AK4USP46, GGNBP1, ARRB2, TRAP1, FAM153B, PPP1CC, PPP1CA, CROT, TARS, MATR3, LRPPRC, DEF8, TKT, PALM2, PSMC3, MDM4, C6orf141, CRYL1AVENBCL2L1, BCL2, APAF1, MOV10, NXF1, XPO1, HNRNPU, RPL10


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for EIF2AK4_AVEN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EIF2AK4_AVEN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2AK4C0002514Amino Acid Metabolism, Inborn Errors1CTD_human
HgeneEIF2AK4C0018500Hair Diseases1CTD_human
HgeneEIF2AK4C0020542Pulmonary Hypertension1CTD_human
HgeneEIF2AK4C0021053Immune System Diseases1CTD_human
HgeneEIF2AK4C0026848Myopathy1CTD_human
HgeneEIF2AK4C0034091Pulmonary Veno-Occlusive Disease (disorder)1CTD_human;ORPHANET
HgeneEIF2AK4C0340848PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE1UNIPROT
TgeneAVENC0007131Non-Small Cell Lung Carcinoma1CTD_human